Varaico: Literature-Extracted Genetic Variants

BMPR1A

682 papers

RefSeq Summary

The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptor...

Pfam Domains

Activin_recpaa 58–137UCSCActivin types I and II receptor domain

TGF_beta_GSaa 205–232UCSCTransforming growth factor beta type I GS-motif

PK_Tyr_Ser-Thraa 234–521UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

bone morphogenetic protein receptor type 1A

HGNC Previous Symbol

ACVRLK3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004329.3

p.Q214*

c.640C>T

Surrounding Variants

1 paper

NM_004329.3

p.Q214R

c.641A>G

2 papers

NM_004329.3

p.Q212K

c.634C>A

1 paper

NM_004329.3

p.G217delFs

c.649_650delGG

1 paper

NM_004329.3

p.D211N

c.631G>A

2 papers

NM_004329.3

p.D211_Q212ins5

c.631_635ins15

1 paper

NM_004329.3

p.G217D

c.650G>A

1 paper

NM_004329.3

p.I210T

c.629T>C

1 paper

NM_004329.3

p.S218T

c.653G>C

1 paper

NM_004329.3

p.L209fs

c.625_626fs

1 paper

NM_004329.3

p.L209insFs

c.625_626insTG

1 paper

NM_004329.3

p.L209fs

c.625_626fs

1 paper

NM_004329.3

p.G219E

c.656G>A